Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility - He, Yinghong; Maier, Kristin; Leppert, Juna; Haußer-Siller, Ingrid; Schwieger-Briel, Agnes; Weibel, Lisa; Theiler, Martin; Kiritsi, Dimitra; Busch, Hauke; Boerries, Melanie; Hannula-Jouppi, Katariina; Heikkilä, Hannele; et al. (The American journal of human genetics, 2016)
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